Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SREBF2 (sterol regulatory element binding transcription factor 2)

Identity

Alias (NCBI)SREBP-2
SREBP2
bHLHd2
HGNC (Hugo) SREBF2
HGNC Alias symbSREBP2
bHLHd2
LocusID (NCBI) 6721
Atlas_Id 42387
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 41833105 and ends at 41907305 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SREBF2 (22q13.2)::ACO2 (22q13.2)SREBF2 (22q13.2)::FMNL2 (2q23.3)SREBF2 (22q13.2)::MEI1 (22q13.2)
SREBF2 (22q13.2)::PLPP4 (10q26.12)SREBF2 22q13.2::ACO2 22q13.2SREBF2 22q13.2::FMNL2 2q23.3
SREBF2 22q13.2::PPAPDC1A 10q26.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SREBF2   11290
Cards
Entrez_Gene (NCBI)SREBF2    sterol regulatory element binding transcription factor 2
AliasesSREBP-2; SREBP2; bHLHd2
GeneCards (Weizmann)SREBF2
Ensembl hg19 (Hinxton)ENSG00000198911 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198911 [Gene_View]  ENSG00000198911 [Sequence]  chr22:41833105-41907305 [Contig_View]  SREBF2 [Vega]
ICGC DataPortalENSG00000198911
TCGA cBioPortalSREBF2
AceView (NCBI)SREBF2
Genatlas (Paris)SREBF2
SOURCE (Princeton)SREBF2
Genetics Home Reference (NIH)SREBF2
Genomic and cartography
GoldenPath hg38 (UCSC)SREBF2  -     chr22:41833105-41907305 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SREBF2  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathSREBF2 - 22q13.2 [CytoView hg19]  SREBF2 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000198911
Genome Data Viewer NCBISREBF2 [Mapview hg19]  
OMIM600481   
Gene and transcription
Genbank (Entrez)AA035591 AK299914 AL834221 BC051385 BC051799
RefSeq transcript (Entrez)NM_004599
Consensus coding sequences : CCDS (NCBI)SREBF2
Gene ExpressionSREBF2 [ NCBI-GEO ]   SREBF2 [ EBI - ARRAY_EXPRESS ]   SREBF2 [ SEEK ]   SREBF2 [ MEM ]
Gene Expression Viewer (FireBrowse)SREBF2 [ Firebrowse - Broad ]
GenevisibleExpression of SREBF2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6721
GTEX Portal (Tissue expression)SREBF2
Human Protein AtlasENSG00000198911-SREBF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12772   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12772  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12772
PhosPhoSitePlusQ12772
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)SREBF2
PDB (RSDB)1UKL   
PDB Europe1UKL   
PDB (PDBSum)1UKL   
PDB (IMB)1UKL   
Structural Biology KnowledgeBase1UKL   
SCOP (Structural Classification of Proteins)1UKL   
CATH (Classification of proteins structures)1UKL   
SuperfamilyQ12772
AlphaFold pdb e-kbQ12772   
Human Protein Atlas [tissue]ENSG00000198911-SREBF2 [tissue]
HPRD02726
Protein Interaction databases
DIP (DOE-UCLA)Q12772
IntAct (EBI)Q12772
BioGRIDSREBF2
STRING (EMBL)SREBF2
ZODIACSREBF2
Ontologies - Pathways
QuickGOQ12772
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  Golgi membrane  C-8 sterol isomerase activity  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  regulation of transcription by RNA polymerase II  lipid metabolic process  protein C-terminus binding  cholesterol metabolic process  regulation of Notch signaling pathway  cellular response to starvation  positive regulation of cholesterol storage  positive regulation of cholesterol storage  ER to Golgi transport vesicle membrane  SREBP signaling pathway  SREBP signaling pathway  SREBP-SCAP-Insig complex  cholesterol homeostasis  intracellular membrane-bounded organelle  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein dimerization activity  E-box binding  cellular response to low-density lipoprotein particle stimulus  cellular response to laminar fluid shear stress  negative regulation of cholesterol efflux  positive regulation of miRNA transcription  regulation of autophagy of mitochondrion  positive regulation of protein targeting to mitochondrion  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  Golgi membrane  C-8 sterol isomerase activity  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  regulation of transcription by RNA polymerase II  lipid metabolic process  protein C-terminus binding  cholesterol metabolic process  regulation of Notch signaling pathway  cellular response to starvation  positive regulation of cholesterol storage  positive regulation of cholesterol storage  ER to Golgi transport vesicle membrane  SREBP signaling pathway  SREBP signaling pathway  SREBP-SCAP-Insig complex  cholesterol homeostasis  intracellular membrane-bounded organelle  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein dimerization activity  E-box binding  cellular response to low-density lipoprotein particle stimulus  cellular response to laminar fluid shear stress  negative regulation of cholesterol efflux  positive regulation of miRNA transcription  regulation of autophagy of mitochondrion  positive regulation of protein targeting to mitochondrion  sequence-specific double-stranded DNA binding  
Pathways : BIOCARTABIOCARTA_S1PPATHWAY   
NDEx NetworkSREBF2
Atlas of Cancer Signalling NetworkSREBF2
Wikipedia pathwaysSREBF2
Orthology - Evolution
OrthoDB6721
GeneTree (enSembl)ENSG00000198911
Phylogenetic Trees/Animal Genes : TreeFamSREBF2
Homologs : HomoloGeneSREBF2
Homology/Alignments : Family Browser (UCSC)SREBF2
Gene fusions - Rearrangements
Fusion : MitelmanSREBF2::ACO2 [22q13.2/22q13.2]  
Fusion : MitelmanSREBF2::FMNL2 [22q13.2/2q23.3]  
Fusion : MitelmanSREBF2::PPAPDC1A [22q13.2/10q26.12]  
Fusion : QuiverSREBF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSREBF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SREBF2
dbVarSREBF2
ClinVarSREBF2
MonarchSREBF2
1000_GenomesSREBF2 
Exome Variant ServerSREBF2
GNOMAD BrowserENSG00000198911
Varsome BrowserSREBF2
ACMGSREBF2 variants
VarityQ12772
Genomic Variants (DGV)SREBF2 [DGVbeta]
DECIPHERSREBF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSREBF2 
Mutations
ICGC Data PortalSREBF2 
TCGA Data PortalSREBF2 
Broad Tumor PortalSREBF2
OASIS PortalSREBF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSREBF2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSREBF2
Mutations and Diseases : HGMDSREBF2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSREBF2
DgiDB (Drug Gene Interaction Database)SREBF2
DoCM (Curated mutations)SREBF2
CIViC (Clinical Interpretations of Variants in Cancer)SREBF2
Cancer3DSREBF2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600481   
Orphanet
DisGeNETSREBF2
MedgenSREBF2
Genetic Testing Registry SREBF2
NextProtQ12772 [Medical]
GENETestsSREBF2
Target ValidationSREBF2
Huge Navigator SREBF2 [HugePedia]
ClinGenSREBF2
Clinical trials, drugs, therapy
MyCancerGenomeSREBF2
Protein Interactions : CTDSREBF2
Pharm GKB GenePA336
PharosQ12772
Clinical trialSREBF2
Miscellaneous
canSAR (ICR)SREBF2
HarmonizomeSREBF2
ARCHS4SREBF2
DataMed IndexSREBF2
Probes
Litterature
PubMed224 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSREBF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 13:00:46 CET 2022

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